Property Summary

NCBI Gene PubMed Count 66
PubMed Score 231.95
PubTator Score 593.21

Knowledge Summary


No data available


  Differential Expression (6)

Disease log2 FC p
psoriasis -2.100 4.8e-04
atypical teratoid / rhabdoid tumor 2.000 3.4e-05
glioblastoma 1.800 6.9e-06
group 4 medulloblastoma 1.600 1.2e-02
medulloblastoma, large-cell 1.300 1.2e-03
Gaucher disease type 1 1.400 4.0e-02

Pathway (1)

Gene RIF (32)

25519973 Epigenetic regulation of ATN1 by LSD1 is required for cortical progenitor maintenance.
25398822 Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
24981774 These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes.
23933208 results suggest that expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization.
23263592 This study demonistrated that hypoalbuminemia in early onset DRPLA revealed the possibility of multiorgan involvement.
22342974 In cerebrum and cerebellum of DRPLA transgenic mouse lines at 4, 8, and 12 weeks it is demonstrated that both the number and expression levels of the altered genes are highly dependent on CAG repeat length and age in both brain regions.
22083836 This study demonistrated that Atn1 is response for Dentatorubral-pallidoluysian atrophy.
21827919 This sttudy suggested that age-dependent and CAG repeat-dependent intranuclear accumulation of mutant DRPLA leading to nuclear dysfunctions are suggested to be the essential pathophysiologic mechanisms in Dentatorubral-pallidoluysian atrophy.
21749564 A pair of monozygotic twins is diagnosed with dentatorubro pallidoluysian atrophy, identical CAG repeats, and different clinical courses.
20977674 the C-terminal fragment plays a principal role in the pathological accumulation of ATN1 in dentatorubral-pallidoluysian atrophy
20589872 The CAG repeat length of DRPLA may have a considerable effect on not only the disease onset but also the disease milestones and prognosis in DRPLA patients.
20339376 Atrophin-1 promote neurodegeneration with autophagic hallmarks both in neuronal photoreceptors and glial cells.
20196398 Molecular testing for dentatorubral pallidoluysian atrophy revealed abnormal "cytosine-adenine-guanosine" expansion in the atrophin-1 gene.
19235102 Observational study of gene-disease association. (HuGE Navigator)
19039037 The dentatorubral-pallidoluysian atrophy transgenic mice showed severe neurological phenotypes with progressive brain atrophy and premature death.
18651325 244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.
18182848 Observational study of gene-disease association. (HuGE Navigator)
17965145 data suggest that a founder effect accounts for some of the high prevalence of Dentatorubral pallidoluysian and ATN1 expansion polymorphism in Wales.
17503969 Both Drosophila and human Brakeless and Atrophin interact in vitro. Brakeless homologs may influence the toxicity of polyglutamine-expanded Atrophin-1.
16967484 linkage and association for three CAG triplet repeat markers (Spinocerebellar Ataxia Type 1, SCA1; Machado-Joseph Disease, MJD; Dentatorubro-pallidoluysian Atrophy, DRPLA) to assess their contribution to variation in cognitive ability
16858508 Observational study of genotype prevalence. (HuGE Navigator)
16534126 Status epilepticus during sleep caused by an expansion of the CAG repeat in the DRPLA gene.
16407196 mutant atropphin with polyglutamine expansion does not simply function in a dominant negative manner
16091834 In DRPLA, the expression ratio of two mRNA isoforms was generated by alternative splicing. The glutamine-included protein isoform was more predominantly localized in the cell nucleus.
15223312 The molecular architecture of CAG repeats in mutant DRPLA was studied.
15148151 Observational study of genotype prevalence. (HuGE Navigator)
14756671 Observational study of gene-disease association. (HuGE Navigator)
12812981 DRPLA protein is a phosphoprotein, and c-Jun NH(2)-terminal kinase (JNK) is one of the major factors involved in its phosphorylation
12464607 Nuclear localization of a non-caspase truncation product of this protein, with an expanded polyglutamine repeat, increases cellular toxicity.
11807410 Observational study of gene-disease association. (HuGE Navigator)
11781699 Observational study of genotype prevalence. (HuGE Navigator)
11121205 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (70)

PMID Year Title
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25519973 2014 Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance.
25398822 Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
24981774 2014 Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23933208 2013 Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.
23263592 2013 Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22342974 2012 DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles.
22083836 2012 Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families.
21827919 2012 Dentatorubral-pallidoluysian atrophy.
21749564 2011 Differential clinical features in a pair of monozygotic twins with dentatorubropallidoluysian atrophy.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20977674 2010 Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy.
20696395 2010 Conserved beta-hairpin recognition by the GYF domains of Smy2 and GIGYF2 in mRNA surveillance and vesicular transport complexes.
20589872 2010 Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length.
20410308 2010 Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
20339376 2010 Neurodegeneration by polyglutamine Atrophin is not rescued by induction of autophagy.
20196398 Dentatorubral pallidoluysian atrophy in a Turkish family.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19235102 Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.
19131340 2009 Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells.
19039037 2009 Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18651325 Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.
18182848 2007 Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis.
17965145 2008 Dentatorubral pallidoluysian atrophy in South Wales.
17577209 2007 The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing.
17503969 2007 Drosophila brakeless interacts with atrophin and is required for tailless-mediated transcriptional repression in early embryos.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16967484 2007 Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins.
16858508 2006 Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16534126 2006 Age-related electrical status epilepticus during sleep and epileptic negative myoclonus in DRPLA.
16407196 2006 Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA.
16091834 2005 Frequent occurrence of protein isoforms with or without a single amino acid residue by subtle alternative splicing: the case of Gln in DRPLA affects subcellular localization of the products.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15223312 2004 Molecular architecture of CAG repeats in human disease related transcripts.
15148151 2004 Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
14756671 2004 Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
12812981 2003 Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464607 2003 Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity.
11984006 2002 The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.
11843701 2002 Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy.
11807410 2001 Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?
11781699 2001 Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.
11121205 2000 Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.
10973986 2000 Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription.
10814707 2000 Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10332026 1999 Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.
10085113 1999 Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity.
9949204 1999 Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases.
9845282 1998 Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain.
9647693 1998 Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.
9361003 1997 Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis.
9074930 1997 Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination.
8965642 1996 DRPLA gene (atrophin-1) sequence and mRNA expression in human brain.
8852663 1996 A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.
8786114 1996 Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization.
8723724 1996 A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13.
8325628 1993 Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms.
8136840 1994 Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
8136826 1994 Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.
7951323 1994 The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.
7842016 1994 Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).
7647802 1995 Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain.
7485154 1995 Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.